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Mutations for Leber hereditary optic neuropathy in patients with alcohol and tobacco optic neuropathy.


ABSTRACT:

Purpose

There are many similarities in the clinical presentation of Leber hereditary optic neuropathy (LHON) and in patients who have optic neuropathy and a history of heavy tobacco and alcohol consumption. The main objective of this study is to investigate the frequency of primary and secondary mitochondrial DNA (mtDNA) mutations for LHON in patients diagnosed as having alcohol and tobacco optic neuropathy (ATON).

Methods

Twenty-six patients who had a history of heavy alcohol and tobacco consumption and who developed bilateral optic neuropathy were tested for primary mutations (G11778A, T14484C, and G3460A) by restriction analysis, and 14 secondary mutations in the genes mitochondrially encoded NADH dehydrogenase 1 (MT-ND1), mitochondrially encoded NADH dehydrogenase 4 (MT-

SUBMITTER: Amaral-Fernandes MS 

PROVIDER: S-EPMC3244475 | biostudies-literature | 2011

REPOSITORIES: biostudies-literature